Trisomy 14 mosaicism: a case report and review of the literature.

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting cytogenetic evaluation of blood, and possibly other tissues for diagnosis.     

A case of Fryns syndrome without diaphragmatic hernia and review of the literature

We report on a child with Fryns syndrome who showed a characteristic coarse hirsute facial appearance, bilateral cleft lip and palate, cardiac and renal anomalies, dilated bowel and distal limb abnormalities. However, diaphragmatic hernia, which is considered a cardinal feature in this condition, was absent in our patient. The parents were consanguineous supporting autosomal recessive inheritance.     

Hidradenitis suppurativa: a case presentation and review of the literature

A case history of a 34-year-old white woman with recurrent inflammatory lesions involving the inguinal areas bilaterally is presented. Salient points of diagnosis, pathophysiology, and differential diagnosis are discussed. In this patient, steroid injections, incision and drainage, and topical and systemic antibiotics were unsuccessful, and a modified vulvectomy with inguinal skin resection was performed. An historic review of hidradenitis suppurativa is presented, and current options of management are discussed.     

Paraneoplastic encephalomyelitis: a case report and review of the literature

BACKGROUND: The incidence of paraneoplastic syndromes varies with tumor histology. Uterine sarcomas rarely cause paraneoplastic syndromes. Furthermore, paraneoplastic encephalomyelitis has never been reported to accompany a uterine leiomyosarcoma. CASE: A 44-year-old female developed an ANNA-1 paraneoplastic encephalomyelitis after a diagnosis of a uterine leiomyosarcoma. CONCLUSION: Paraneoplastic encephalomyelitis usually causes progressive neurologic decline. Treatment rarely alters this course.     

Tubal choriocarcinoma: a case report and review of the literature

The authors describe a case report of a tubal choriocarcinoma occurring in women of 32 years old, 2 years after her last pregnancy. The patient was treated by laparoscopic salpingectomy and polychemotherapy. Metastatic pulmonary micronodules were diagnosed at thoraco-abdomino-pelvic tomodensitometry. Patient's recovery was complete with an uneventfull follow-up at 3 years. The association of surgical treatment and chemotherapy used under the guidelines of the FIGO score improves patient's outcome.     

Maternal arrhythmia: a case report and review of the literature

Pregnant patients with maternal arrhythmias can be challenging and difficult to treat. Medication choices may be limited in patients who are pregnant. Pregnancy carries with it a unique and complex physiology, coupled with fetal concerns. We describe a pregnant patient with an arrhythmia to illustrate treatment thought process and options. We also present a comprehensive review of the literature in regard to treatment of maternal arrhythmias and their potential adverse fetal and maternal outcomes. These treatments include antiarrhythmic medications, electrical cardioversion, and radiofrequency ablation. Antepartum and intrapartum monitoring will also be addressed along with delivery planning and postpartum considerations. The most important aspect in treating these patients is the use of a multidisciplinary approach. The decision of what therapy to use must be addressed on a case-by-case basis with special attention to the patient's individual issues and concerns. TARGET AUDIENCE: Obstetricians and gynecologists, family physicians, emergency room physicians LEARNING OBJECTIVES: After completion of this educational activity, the obstetrician/gynecologist should be better able to assess and council patients on the risks and complications of maternal arrhythmias in pregnancy. Evaluate the current treatment options available for health care providers caring for pregnant patients with maternal arrhythmia, and manage the antepartum course, labor, and delivery in these patients.     

Intramural ectopic pregnancy: a case and review of the literature

An intramural ectopic is a rare type of ectopic pregnancy in which the gestational sac is implanted within the myometrium, separate from the endometrial cavity and Fallopian tubes. There are only 53 cases in the published literature. We report a case of intramural ectopic pregnancy treated surgically and review the published data on this rare type of ectopic pregnancy, with respect to aetiology, diagnosis and management.     

Plasmacytoma of the ovary: a case report and literature review

BACKGROUND: Ovarian plasmacytomas are a unique and unusual presentation of extramedullary plasmacytomas (EMP). A report of the seventh such case is presented with review of the previous six cases. METHODS: Surgical and medical staging were performed on the present case. The literature is reviewed. RESULTS: EMP involving the ovary is usually large at the time of presentation, more likely involving the left side, and without evidence of disseminated disease. As in other plasma cell dyscrasia, IgG paraprotein is more frequently involved. CONCLUSION: Adjuvant treatment for ovarian plasmacytomas is not clearly established; however, if complete surgical resection is achieved and no evidence of multiple myeloma is found, observation should be strongly considered.     

Utero-cutaneous fistula: a case report and literature review

Utero-cutaneous fistula is a rare clinical entity with less than 15 cases reported worldwide in the last 20 years and this is the first case reported in our country. In this article we review the worldwide literature addressing this condition and present the first case reported in México and the first case reported worldwide in which the fistula is demonstrated using a combination of fistulogram and CT.     

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G --> C at nucleotide 870. This led to a Trp290Cys amino acidic substitution.We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull.     

Myelomeningocele and pregnancy: a case report and review of the literature

The improvement of antenatal management and surgical techniques has greatly increased the survival rate of infants with spina bifida. More of these women are reaching adulthood and reproductive age and therefore could become pregnant. Pregnancy complications depend on the kind of spina bifida and subject’s condition.We report a case of woman with a severe kyphoscoliosis, that progressively affects lung capacity until 32 weeks of gestation, when she underwent caesarean section.These patients deserve careful obstetric care, genetic counselling and urological, obstetric, neurological and anaesthetic management.     

Chiari I malformation with or without syringomyelia and pregnancy: case studies and review of the literature

Women with Chiari I malformation with or without syringomyelia are of particular concern because of the potential risk of increased intracranial pressure during pregnancy and delivery. The following questions are most often asked in the clinical setting: Is it safe to have a planned pregnancy? Will the symptoms become worse or recur during pregnancy and will the baby be normal? Seven patients with Chiari I malformation, with and without syringomyelia, submitted checklists of self-reported symptoms experienced during pregnancy, labor, and postpartum. Seven patients with Chiari I malformation with and without syringomyelia were queried for symptoms during pregnancy, labor, and postpartum. None of the patients reported significant increase or recurrence of Chiari-related symptoms during delivery or postpartum. Four of the women had epidural anesthesia for delivery and reported no related symptoms. This series represents a small number of women with Chiari I malformation who had uncomplicated pregnancy, labor, and delivery.     

Pelvic lymphocele: report of a case and review of the literature

Lymphadenectomy for pelvic cancer can lead to complications, particularly lymphocele. We report a case of pelvic lymphocele, which occurred in a patient who underwent surgery for stage IIa cervical carcinoma after preoperative radiotherapy. The intervention consisted in colpohysterectomy, with lymphadenectomy without peritonisation. Five months later she developed dysuria and pelvic pain. Ultrasound and computed tomography showed a pelvic lymphocele complicated by renal insufficiency. Kidney function was re-established after intraperitoneal marsupialisation. One year later the patient was in good clinical condition with no disorder of kidney function.     

Pregnancy after hemipelvectomy: a case report and review of the literature

Hemipelvectomy is a most radical attempt at cure of malignant tumors of the pelvis and the upper portion of the femur. Pregnancy following this severely mutilating operation is rare. Despite the considerable loss of pelvic support patients do remarkably well. A case of pregnancy following hemipelvectomy is presented and represents the 16th report in the English literature. The anatomic consequences of hemipelvectomy are described and a review of the past 61 years experience with pregnancy following this operation is presented.     

Glanzmann's thrombasthenia in pregnancy: a case and review of the literature

Glanzmann's thrombasthenia is a rare autosomal recessive bleeding disorder resulting from a deficiency of glycoprotein IIb-IIIa complex in platelets. The deficient complex normally mediates platelet aggregation by binding adhesive proteins, which form bridges between activated cells. Despite normal platelet counts, morphology, prothrombin, and activated thromboplastin times, Glanzmann's thrombasthenia is characterized by a prolonged bleeding time and a severe hemorrhagic mucocutaneous diasthesis. Pregnancy and delivery are rare in these patients and have been associated with a high risk of severe hemorrhage. We present an unusual case in which a primi-gravida patient with Glanzmann's thrombasthenia underwent an uneventful pregnancy and spontaneous vaginal delivery, following intrapartum intravenous administration of single-donor platelets. Subsequent late postpartum hemorrhage required intravenous transfusion of an additional unit of single-donor platelets. In addition, we review the literature pertaining to pregnancy and Glanzmann's thrombasthenia with an emphasis on intrapartum prophylactic management.     

Leiomyosarcoma of the broad ligament: a case report and literature review

Primary leiomyosarcoma of the broad ligament is a very rare, rapidly progressive and highly malignant gynaecological tumor. There are only 11 cases reported so far in the literature. An 87-year-old Caucasian lady with leiomyosarcoma of the broad ligament is presented. Treatment consisted of resection and total abdominal hysterectomy with bilateral salpingo-oopphorectomy. Unusually, she developed large recurrent pelvic disease in the absence of disseminated metastasis following surgery. She died within 8 weeks of primary surgery. This highlights the unknown behavior of this tumor and the need for more research into management.